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Cellosaurus GM17472 (CVCL_4F79)

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Cell line name GM17472
Accession CVCL_4F79
Resource Identification Initiative To cite this cell line use: GM17472 (RRID:CVCL_4F79)
Comments Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:90; ACADS; Simple; p.Arg171Trp (c.511C>T) (R147W); ClinVar=VCV000003830; Zygosity=Heterozygous (Coriell=GM17472).
  • Mutation; HGNC; HGNC:90; ACADS; Simple; p.Gly209Ser (c.625G>A) (G185S); ClinVar=VCV000003831; Zygosity=Heterozygous (Coriell=GM17472).
Disease Acyl-CoA dehydrogenase, short-chain deficiency (NCIt: C84539)
Short chain acyl-CoA dehydrogenase deficiency (ORDO: Orphanet_26792)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 13Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM17472
Cell line databases/resources CLO; CLO_0012929
Encyclopedic resources Wikidata; Q54848909
Entry history
Entry creation22-Sep-2015
Last entry update19-Dec-2024
Version number15